目的　探讨GLUD1基因变异所致高胰岛素血症伴高氨血症综合征临床表现和致病基因特点。 方法　回顾分 析1例高胰岛素血症伴高氨血症综合征患儿的临床资料，并复习相关文献。结果　女性患儿， 1岁9个月起病，反复出现血 糖偏低 ２ 年余，并惊厥发作3次，给予升血糖、止惊对症处理后可缓解；伴血胰岛素、血氨水平升高，诊断为高胰岛素血 症伴高氨血症综合征。高通量测序发现患儿GLUD1基因存在错义变异c.965G>A，p.Arg322His（杂合），其父母该位点均 为正常基因型，为新生突变。结论　基因检测有助于明确高胰岛素血症伴高氨血症综合征诊断。

　Objective　To investigate the pathogenesis, clinical manifestations and genetic characteristics of hyperinsulinism-hyperammonemia (HI/HA) syndrome caused by GLUD1 gene mutation. Method　Clinical data of a case with HI/HA syndrome was retrospectively analyzed, and relevant literature was reviewed. Results　The girl began to have repeated hypoglycemia since she was 1 year and nine months old. During the course of more than two years, convulsions had happened for 3 times which was recovered by elevated blood sugar and anticonvulsant therapy each time. Laboratory data showed that the level of blood insulin and ammonia was elevated, which was defined as HI/HA syndrome. High-throughput sequencing analysis revealed a de novo heterogeneous missense mutation (c.965G > A, p.Arg322His) in GLUD1 gene. Conclusion　Gene detection could confirm the diagnosis of HI/HA syndrome.